1.
Am J Med Genet A
; 143A(24): 3137-9, 2007 Dec 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17907158
RESUMO
Here, we report on a newly recognized syndrome in a Brazilian family with three affected women, who had a Marfanoid habitus; long face; hypotelorism; long, thin nose; long, thin hands and feet; and language and learning disabilities. The disorder is compatible with autosomal dominant inheritance.